Outcome following prenatal diagnosis of complete atrioventricular septal defect

To identify in a case cohort study, overall outcome following prenatal diagnosis of complete AVSD (cAVSD) in a tertiary referral fetal cardiology center.

We retrospectively reviewed all pregnancies from 1997 to 2004 in which the fetus was identified on ultrasound examination as having a cAVSD.

A prenatal diagnosis of cAVSD was made using fetal echocardiography in 99 fetuses. The median (range) gestational age at diagnosis was 23 weeks (17-37). In 41 cases, cAVSD was the sole cardiac lesion. The remaining 58 fetuses had associated additional intracardiac malformations. Prenatal karyotype was obtained in 43 fetuses and was abnormal in 23. Extracardiac anomalies were also identified in 25 fetuses. Following prenatal counseling, 35 couples chose termination. Of the 64 continuing pregnancies, 12 were stillbirths and 4 were lost to follow-up. Of the 48 live births, 16 were neonatal deaths without surgery while 32 babies underwent surgery and 19 have survived to date (follow-up between 2 years 10 months to 9 years 10 months).

At the time of prenatal diagnosis at a regional fetal medicine center, the overall survival rate for fetuses with cAVSD is 32% (excluding termination and those lost to follow-up). This information has important implication for parents of fetuses with cAVSD and when undergoing prenatal counseling.